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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147140insertion1nstd232human GRCh37.p13 chr21: 47,410,379-47,410,379 , GRCh38.p12 chr21: 45,990,465-45,990,465 COL6A1
    nsv7145788insertion1nstd232human GRCh37.p13 chr21: 47,419,885-47,419,885 , GRCh38.p12 chr21: 45,999,971-45,999,971 COL6A1
    nsv7142902insertion1nstd232human GRCh37.p13 chr21: 47,419,849-47,419,849 , GRCh38.p12 chr21: 45,999,935-45,999,935 COL6A1
    nsv7141376copy number variation1nstd232human GRCh37.p13 chr21: 47,417,051-47,417,113 , GRCh38.p12 chr21: 45,997,137-45,997,199 COL6A1
    nsv7096102copy number variation1nstd102humanUncertain significance GRCh37 chr21: 47,423,046-47,429,562 , GRCh38.p12 chr21: 46,003,132-46,009,648 COL6A1
    nsv7096101copy number variation1nstd102humanUncertain significance GRCh37 chr21: 47,417,315-47,423,927 , GRCh38.p12 chr21: 45,997,401-46,004,013 COL6A1
    nsv7096096copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr21: 43,160,998-47,754,702 , GRCh38.p12 chr21: 41,740,838-46,334,788 TSPEAR, LINC01424, 158 more genes
    nsv7093275copy number variation1nstd102humanLikely pathogenic GRCh37 chr21: 47,407,419-47,408,291 , GRCh38 chr21: 45,987,505-45,988,377 COL6A1
    nsv7093266copy number variation1nstd102humanUncertain significance GRCh37 chr21: 47,410,341-47,410,424 , GRCh38 chr21: 45,990,427-45,990,510 COL6A1
    nsv7076050inversion1nstd229human GRCh38 chr21: 45,605,764-46,186,956 , GRCh37.p13 chr21: 47,025,678-47,606,870 SPATC1L, PCBP3, 11 more genes
    nsv7067822inversion1nstd229human GRCh38 chr21: 45,504,401-46,041,263 , GRCh37.p13 chr21: 46,924,315-47,461,177 COL6A1, COL18A1, 8 more genes
    nsv7036751copy number variation1nstd229human GRCh38 chr21: 45,999,218-46,001,260 , GRCh37.p13 chr21: 47,419,132-47,421,174 COL6A1
    nsv7034866copy number variation1nstd229human GRCh38 chr21: 45,994,230-45,997,419 , GRCh37.p13 chr21: 47,414,144-47,417,333 COL6A1
    nsv7033237copy number variation1nstd229human GRCh38 chr21: 45,995,847-45,995,887 , GRCh37.p13 chr21: 47,415,761-47,415,801 COL6A1
    nsv7032817copy number variation1nstd229human GRCh38 chr21: 45,802,857-46,109,638 , GRCh37.p13 chr21: 47,222,771-47,529,552 LOC105372841, PCBP3, 6 more genes
    nsv7031899copy number variation1nstd229human GRCh38 chr21: 45,982,908-45,982,977 , GRCh37.p13 chr21: 47,402,822-47,402,891 COL6A1
    nsv7030201copy number variation1nstd229human GRCh38 chr21: 45,946,800-46,158,228 , GRCh37.p13 chr21: 47,366,714-47,578,142 LOC101928796, COL6A1, 6 more genes
    nsv6637927copy number variation1nstd102humanUncertain significance GRCh37 chr21: 47,168,520-47,413,635 , GRCh38.p12 chr21: 45,748,606-45,993,721 PCBP3-AS1, COL6A1, 3 more genes
    nsv6637891copy number variation1nstd102humanUncertain significance GRCh37 chr21: 46,882,064-47,963,149 , GRCh38.p12 chr21: 45,462,150-46,543,236 C21orf58, PCNT, 25 more genes
    nsv6634428copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,808,650-47,529,568 , GRCh38.p12 chr21: 44,388,767-46,109,654 KRTAP12-5P, MTCYBP21, 64 more genes
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